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Ophthalmologic Findings of Boucher-Neuhäuser Syndrome
To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa...
Autores principales: | Yu, Sun Im, Kim, Jung Lim, Lee, Sul Gee, Kim, Hyun Woong, Kim, Sang Jin |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Ophthalmological Society
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629917/ https://www.ncbi.nlm.nih.gov/pubmed/19096246 http://dx.doi.org/10.3341/kjo.2008.22.4.263 |
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